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• W2895844388 abstract "The Alzheimer's Disease Sequencing Project (ADSP) is an initiative to identify genetic variation influencing late-onset Alzheimer's disease risk. As part of the ADSP Discovery Phase, we performed whole genome sequencing (WGS), linkage analysis, variant annotation, and gene-based association tests in 44 non-Hispanic white (NHW) extended families (229 subjects) multiply affected by Late Onset Alzheimer Disease (LOAD). The Extension Phase adds 64 subjects to the Discovery families, as well as 84 subjects in 6 new families. WGS data were generated at the NHGRI sequencing centers, including affected individuals and unaffected, elderly relatives. Sequence alignment was performed using BWA, followed by consensus genotype calling using multiple methods. Two analysis approaches were taken: first, LOD scores were calculated using genome-wide array data and multipoint linkage analyses (parametric and non-parametric). Variants were filtered to families and genomic regions using HLOD and family-specific LOD scores and annotation of function, frequency, and segregation with disease. In the second approach known AD candidate genes were assessed for rare variant association using the FSKAT software. In the Discovery phase we identified 41 rare, predicted-damaging variants that segregated with disease in the families that contributed to the HLOD or family-specific LOD regions. These included a variant in NOS1AP that segregates with disease in a family with seven individuals with AD, as well as variants in RP11-433J8, ABCA1, and FISP2. Rare-variant association identified two LOAD candidate genes associated with disease in these families: FERMT2 (p-values=0.001), and SLC24A4 (p-value=0.009). These genes still showed association while controlling for common index SNPs, indicating the rare-variant signal is distinct from common variation that initially identified the genes as candidates. Analysis of the Extension phase is ongoing. We identified multiple genes with damaging rare variants that segregate with disease in multiplex AD families, and show rare variation may influence AD risk at known AD candidate genes. These results identify novel AD candidate genes and show a role for rare variation in LOAD etiology, even at genes previously identified by common variation." @default.
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• W2895844388 date "2018-07-01" @default.
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• W2895844388 title "P2‐108: WHOLE‐GENOME SEQUENCING IN NON‐HISPANIC WHITE FAMILIES IMPLICATES RARE VARIATION IN LATE‐ONSET ALZHEIMER'S DISEASE RISK" @default.
• W2895844388 doi "https://doi.org/10.1016/j.jalz.2018.06.794" @default.
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